Gene

KDM6A - Kabuki syndrome, type 2 *

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 534

KDM6A - Kabuki syndrome, type 2 *



€ 534

KDM6A - Kabuki syndrome, type 2 *

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Kabuki syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Kabuki syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 300128
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 534
Gene

KMT2D (MLL2) - Kabuki syndrome, type 1*

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 772

KMT2D (MLL2) - Kabuki syndrome, type 1*



€ 772

KMT2D (MLL2) - Kabuki syndrome, type 1*

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Kabuki syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Kabuki syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602113
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 772